Functional methionine synthase deficiency due to cblG disorder: A report of two patients and a review

Cary Harding, Georgianne Arnold, Lewis A. Barness, Jon A. Wolff, David S. Rosenblatt

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Functional methionine synthase deficiency due to abnormal methylcobalamin metabolism causes megaloblastic anemia, moderate to severe developmental delay, lethargy, and anorexia in association with homocystinuria. Patients with this disorder of cobalamin metabolism can be classified into two separate groups, cblE or cblG, primarily on the basis of complementation analysis with cultured skin fibroblasts. We describe two unrelated boys, ages 3 and 5 years, with the cblG defect in methylcobalamin synthesis. Both children presented with severe developmental delay, lethargy, anorexia, and megaloblastic anemia. The diagnosis of homocystinuria was delayed in each case due to difficulties with detection of small amounts of homocystine in physiologic samples. The clinical course of cblG disease is favorably altered by treatment with intra-muscular hydroxycobalamin. Megaloblastosis in the presence of adequate supplies of cobalamin and folate in the blood must alert the clinician to the possibility of functional methionine synthase deficiency and should prompt a careful search for associated biochemical hallmarks, including homocystinuria/emia.

Original languageEnglish (US)
Pages (from-to)384-390
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume71
Issue number4
DOIs
StatePublished - Sep 5 1997
Externally publishedYes

Fingerprint

Homocystinuria
Megaloblastic Anemia
Lethargy
Anorexia
Vitamin B 12
Homocystine
Hydroxocobalamin
Folic Acid
Fibroblasts
Skin
Arakawa syndrome 2
mecobalamin
Therapeutics

Keywords

  • Homocystinuria
  • Megaloblastic anemia
  • Vitamin B

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Functional methionine synthase deficiency due to cblG disorder : A report of two patients and a review. / Harding, Cary; Arnold, Georgianne; Barness, Lewis A.; Wolff, Jon A.; Rosenblatt, David S.

In: American Journal of Medical Genetics, Vol. 71, No. 4, 05.09.1997, p. 384-390.

Research output: Contribution to journalArticle

Harding, Cary ; Arnold, Georgianne ; Barness, Lewis A. ; Wolff, Jon A. ; Rosenblatt, David S. / Functional methionine synthase deficiency due to cblG disorder : A report of two patients and a review. In: American Journal of Medical Genetics. 1997 ; Vol. 71, No. 4. pp. 384-390.
@article{ff3a203eefd74b96b8fcf4fc3b1f5683,
title = "Functional methionine synthase deficiency due to cblG disorder: A report of two patients and a review",
abstract = "Functional methionine synthase deficiency due to abnormal methylcobalamin metabolism causes megaloblastic anemia, moderate to severe developmental delay, lethargy, and anorexia in association with homocystinuria. Patients with this disorder of cobalamin metabolism can be classified into two separate groups, cblE or cblG, primarily on the basis of complementation analysis with cultured skin fibroblasts. We describe two unrelated boys, ages 3 and 5 years, with the cblG defect in methylcobalamin synthesis. Both children presented with severe developmental delay, lethargy, anorexia, and megaloblastic anemia. The diagnosis of homocystinuria was delayed in each case due to difficulties with detection of small amounts of homocystine in physiologic samples. The clinical course of cblG disease is favorably altered by treatment with intra-muscular hydroxycobalamin. Megaloblastosis in the presence of adequate supplies of cobalamin and folate in the blood must alert the clinician to the possibility of functional methionine synthase deficiency and should prompt a careful search for associated biochemical hallmarks, including homocystinuria/emia.",
keywords = "Homocystinuria, Megaloblastic anemia, Vitamin B",
author = "Cary Harding and Georgianne Arnold and Barness, {Lewis A.} and Wolff, {Jon A.} and Rosenblatt, {David S.}",
year = "1997",
month = "9",
day = "5",
doi = "10.1002/(SICI)1096-8628(19970905)71:4<384::AID-AJMG3>3.0.CO;2-U",
language = "English (US)",
volume = "71",
pages = "384--390",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Functional methionine synthase deficiency due to cblG disorder

T2 - A report of two patients and a review

AU - Harding, Cary

AU - Arnold, Georgianne

AU - Barness, Lewis A.

AU - Wolff, Jon A.

AU - Rosenblatt, David S.

PY - 1997/9/5

Y1 - 1997/9/5

N2 - Functional methionine synthase deficiency due to abnormal methylcobalamin metabolism causes megaloblastic anemia, moderate to severe developmental delay, lethargy, and anorexia in association with homocystinuria. Patients with this disorder of cobalamin metabolism can be classified into two separate groups, cblE or cblG, primarily on the basis of complementation analysis with cultured skin fibroblasts. We describe two unrelated boys, ages 3 and 5 years, with the cblG defect in methylcobalamin synthesis. Both children presented with severe developmental delay, lethargy, anorexia, and megaloblastic anemia. The diagnosis of homocystinuria was delayed in each case due to difficulties with detection of small amounts of homocystine in physiologic samples. The clinical course of cblG disease is favorably altered by treatment with intra-muscular hydroxycobalamin. Megaloblastosis in the presence of adequate supplies of cobalamin and folate in the blood must alert the clinician to the possibility of functional methionine synthase deficiency and should prompt a careful search for associated biochemical hallmarks, including homocystinuria/emia.

AB - Functional methionine synthase deficiency due to abnormal methylcobalamin metabolism causes megaloblastic anemia, moderate to severe developmental delay, lethargy, and anorexia in association with homocystinuria. Patients with this disorder of cobalamin metabolism can be classified into two separate groups, cblE or cblG, primarily on the basis of complementation analysis with cultured skin fibroblasts. We describe two unrelated boys, ages 3 and 5 years, with the cblG defect in methylcobalamin synthesis. Both children presented with severe developmental delay, lethargy, anorexia, and megaloblastic anemia. The diagnosis of homocystinuria was delayed in each case due to difficulties with detection of small amounts of homocystine in physiologic samples. The clinical course of cblG disease is favorably altered by treatment with intra-muscular hydroxycobalamin. Megaloblastosis in the presence of adequate supplies of cobalamin and folate in the blood must alert the clinician to the possibility of functional methionine synthase deficiency and should prompt a careful search for associated biochemical hallmarks, including homocystinuria/emia.

KW - Homocystinuria

KW - Megaloblastic anemia

KW - Vitamin B

UR - http://www.scopus.com/inward/record.url?scp=0030769174&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030769174&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19970905)71:4<384::AID-AJMG3>3.0.CO;2-U

DO - 10.1002/(SICI)1096-8628(19970905)71:4<384::AID-AJMG3>3.0.CO;2-U

M3 - Article

C2 - 9286442

AN - SCOPUS:0030769174

VL - 71

SP - 384

EP - 390

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -